神经遗传病基因诊断的困境与对策  

Predicament and countermeasure of genetic diagnosis of neurogenetic diseases

作　　者：吴志英[1] Wu Zhiying(Department of Neurology and Department of Medical Genetics,the Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310009,China)

机构地区：[1]浙江大学医学院附属第二医院神经内科和医学遗传科,杭州310009

出　　处：《中华神经科杂志》2023年第2期121-124,共4页Chinese Journal of Neurology

摘　　要：随着基因检测技术的日益成熟和检测成本的逐年下降,基因诊断逐渐成为诊断神经遗传病的终极手段。由于神经遗传病具有高度的临床变异性和遗传异质性,临床医生在基因诊断过程中经常面临各种困境。文中针对这些困境提出相应对策,建议神经遗传病领域的专家不仅要熟悉神经遗传病的临床、遗传、致病基因及基因检测技术的特点,从而制定最合理的基因检测方案,还要学会正确分析和解读基因检测结果,避免漏诊和误诊。With the increasing development of technology and decreasing costs over the years,genetic diagnosis is gradually becoming the ultimate means of diagnosing neurogenetic diseases.Clinicians often face various predicaments in the process of genetic diagnosis due to the high clinical variability and genetic heterogeneity of neurogenetic diseases.This editorial proposes countermeasures to address these predicaments and suggests that specialists in the field of neurogenetic diseases should not only be familiar with the clinical,genetic and causative genes of neurogenetic diseases,and the characteristics of genetic testing techniques,so as to develop the most reasonable genetic testing protocol,but also learn to correctly analyze and interpret genetic test results to avoid missed diagnoses and misdiagnoses.

关 键 词：神经遗传病 基因诊断 困境 对策 

分 类 号：R741[医药卫生—神经病学与精神病学] R440[医药卫生—临床医学]